HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000493543.1:p.[Val459Ala;Gln461_Lys473delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp476_Asp479del;Val482_Thr488delinsTrp] |
CA2580077583
ENST00000646891.2:c.1375_1376insC
|